Huntington’s disease-like 2 and apparent ancestry
✍ Scribed by GGR Rodrigues; HAG Teive; V Tumas
- Book ID
- 110888656
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 54 KB
- Volume
- 75
- Category
- Article
- ISSN
- 0009-9163
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## Abstract Huntington's disease like‐2 (HDL‐2) neurodegeneration is a recently described autosomal dominant disorder with features similar to Huntington's disease (HD). Only one case report has described neuropathology from an affected patient. We describe the clinical presentation and illustrate
## Abstract Huntington disease‐like 2 (HDL2) is a neurodegenerative disorder caused by an expansion of a CTG repeat in the junctophilin‐3 gene (__JPH3__). A limited number of HDL2 families have been reported, all of apparently Black African ancestry. We report on a South African family that present
## Abstract Huntington's disease‐like 2 is an autosomal dominantly inherited disorder due to an expansion of trinucleotide repeats. It resembles classic Huntington's disease in clinical phenotype, inheritance pattern, and neuropathological features. We highlight the clinical features of this disord
## Abstract Huntington's Disease–like 2 (HDL2) is a progressive, autosomal dominant, neurodegenerative disorder with marked clinical and pathological similarities to Huntington's disease (HD). The causal mutation is a CTG/CAG expansion mutation on chromosome 16q24.3, in a variably spliced exon of j